QDPR Gene Sequencing

Forms and Documents

Test Details

QDPR
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

381
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

References

  1. Kalkanoglu et al., (2001) Prenat Diagn 21:868-870
  2. Farrugia et al., (2007) Mol Genet Metab 90:277-283
  3. Dianzani et al., (1998) Hum Mutat 12:267-273
  4. Romstad et al., (2000) Hum Genet 107:546-553
  5. Smooker et al., (1999) Hum Mutat 13(6):503-4
  6. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online)